1. Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin
- Author
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Maria Francesca Campagnoli, Bruno Oldani, Roberta Pimazzoni, Gabriella Zecchina, Sandra Bosio, Marco DeGobbi, Paola Bosso, and Ugo Ramenghi
- Subjects
Proband ,Pathology ,medicine.medical_specialty ,Adolescent ,genetic structures ,Eye disease ,Physiology ,medicine.disease_cause ,Chromosomes ,Cataract ,Genetic determinism ,Cataracts ,medicine ,blood/genetics/pathology ,Humans ,Point Mutation ,Adolescent, Cataract ,blood/genetics/pathology, Child, Chromosomes ,Human ,Pair 19, Female, Ferritins ,blood/genetics, Humans, Infant, Italy, Pedigree, Point Mutation, Syndrome ,Child ,blood/genetics ,Mutation ,Pair 19 ,biology ,business.industry ,Point mutation ,Infant ,Syndrome ,medicine.disease ,eye diseases ,Pedigree ,Ferritin ,Italy ,Ferritins ,Pediatrics, Perinatology and Child Health ,biology.protein ,Female ,sense organs ,Complication ,business ,Chromosomes, Human, Pair 19 - Abstract
We describe the onset of cataract in early infancy in a family with hereditary hyperferritinaemia-cataract syndrome. The two probands presented with isolated hyperferritinaemia and had developed cataracts at the age of 18 months. Two members of their family with high ferritin levels (1270–1450 µg/l) had suffered from cataract since childhood. The mutation responsible was a 32G→C change in the lateral bulge of the stem structure of the iron responsive element of the L-ferritin subunit gene. Mutations at this level cause particularly high ferritin levels, whereas the age of cataract onset and its severity are controversial subjects. In our family, early ophthalmic examination ruled out the possibility that cataract was due to age-related persistence of high ferritin levels in the lens and suggested that other factors may modulate the phenotype. Conclusion: cataract may appear early in hereditary hyperferritinaemia-cataract syndrome and this syndrome should be suspected and ferritin levels measured in all cases of cataract in children, even when the onset is in early infancy.
- Published
- 2002
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